[Congestive cardiomyopathy associated with a stiff spinal column. "Rigid spine syndrome"].
The "rigid spine syndrome" is a rare form of myopathy characterised by rigidity of the dorso-lumbar spine, hyperextension of the neck and muscular retraction limiting mobility, especially of the upper limbs with elbows fixed in semi-flexion. This condition, which was first described relatively recently, has been little studied: only 8 cases have been published to this day. We report the case of a 20 year old man with this syndrome, associated with a severe diffuse non-obstructive hypertrophic cardiomyopathy. Electronic microscopy and histoenzymological studies were performed on the skeletal muscle. They confirmed myopathic changes, demonstrating a great variation in diameter of the fibres, but there was no evidence of a predominating histoenzymological form (type I muscular atrophy) as previously reported. Although there have been no other reports of cardiac involvement in the "rigid spine syndrome", a link between the two conditions would seem to be likely.
D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000209:etiology*; D006801:Humans; D008297:Male; D009132:Muscles / Q000201:enzymology / Q000473:pathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000150:complications* / Q000473:pathology; D013122:Spinal Diseases / Q000150:complications*
Cardiomyopathie congestive associée à un syndrome de la colonne raide. "Rigid spine syndrome".